ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6q21-q22(chr6:112069445-120994664)x1
Germline
Classification
(1)
Likely pathogenic
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
NUS1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
377 | 413 | |
ASF1A | - | - |
GRCh38 GRCh37 |
- | 35 | |
CALHM4 | - | - | - |
GRCh38 GRCh37 |
9 | 41 |
CALHM5 | - | - | - |
GRCh38 GRCh37 |
- | 47 |
CALHM6 | - | - |
GRCh38 GRCh37 |
- | 47 | |
CCN6 | - | - |
GRCh38 GRCh37 |
220 | 244 | |
CEP85L | - | - |
GRCh38 GRCh37 |
85 | 279 | |
COL10A1 | - | - |
GRCh38 GRCh37 |
- | 450 | |
DCBLD1 | - | - | - |
GRCh38 GRCh37 |
23 | 67 |
DSE | - | - |
GRCh38 GRCh37 |
335 | 418 |
There are 28 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Sep 1, 2015 | RCV000416567.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023